Canonical Allele Identifier: CA1113244359
Gene: THAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1802665374
gnomAD v3: 8-42838863-C-T
gnomAD v4: 8-42838863-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42838863C>T , CM000670.2:g.42838863C>T GRCh38
NC_000008.10:g.42694006C>T , CM000670.1:g.42694006C>T GRCh37
NC_000008.9:g.42813163C>T NCBI36
NG_011837.1:g.9469G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254250.7:c.267+323G>A MANE Select ENSP00000254250.3:n.267+323G>A
ENST00000345117.2:c.72-527G>A ENSP00000344966.2:n.72-527G>A
ENST00000529779.1:c.267+323G>A ENSP00000433912.1:n.267+323G>A
NM_018105.2:c.267+323G>A NP_060575.1:n.267+323G>A
NM_199003.1:c.72-527G>A NP_945354.1:n.72-527G>A
NM_018105.3:c.267+323G>A MANE Select NP_060575.1:n.267+323G>A
NM_199003.2:c.72-527G>A NP_945354.1:n.72-527G>A
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